Article
Mutation analysis of Jewish Hunter patients in Israel.
Human mutation - 1 Jan 1994
Ben Simon-Schiff E, Bach G, Hopwood J J, Abeliovich D
Abstract excerpt
We have performed molecular and mutation analyses on 14 unrelated Israeli Hunter families and have identified the IDS mutation in 8 of them. Three unrelated Ashkenazi patients had the same previously reported mutation (1246 C-->T). Based on the haplotypes of the mutation-bearing chromosomes, we concluded that this is a recurrent mutation. In two patients, we identified a deletion spanning exons V-VII. Three novel...
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